I am pleased to share with you our initial 2012 update from The Stop ALD Foundation ("SALD"). Thanks to your stalwart financial support, the past 6 months have led to progress in the area of adult disease, in particular. The brief summary below covers our efforts relative to treatments for adults with cerebral disease or AMN, a status of the trial done with men suffering from AMN, and our progress on Newborn Screening implementation.
Adults with Cerebral Disease
When adult men carrying the ALD defect develop white matter disease, this is often a deadly finding and is accompanied by little to no hope for a meaningful therapy. We have learned since the 1990's that stem cell transplant ("SCT") can be effective in boys with cerebral involvement; however, whether any effective treatment exists for adults with onset of the disease process has yet to be definitively answered. Historically, SCT has been considered so invasive and dangerous that it has not been offered to ALD patients beyond the pediatric setting.
Fortunately, over the last decade, dramatic improvements have been made in the transplant field that may make adults more appealing candidates. SALD is very interested in promoting discussions and investigations that could advance this therapy in adult men. Towards this goal, SALD hosted a dinner symposium at a recent international hematology meeting where pediatric and adult transplanters shared their experiences. Notwithstanding the absence of any published medical literature on the subject, this setting enabled us to learn that, in fact, over a dozen men have been transplanted for cerebral onset in different countries with mixed results. We want to bring all of these data together and have the experts establish guidelines for transplants going forward. This will ultimately serve to answer the very important question: Which men are suitable for SCT and how should they be treated to ensure best possible outcome?
A follow-up meeting took place in March of 2012, and SALD will be hosting a comprehensive international workshop in June of 2012. We anticipate that, as a result, more men will be offered transplants in the US, UK, France, The Netherlands, and Germany. Gene therapy may eventually follow for adults, as it did for children.
In January of 2012, SALD partnered with the European Leukodystrophy Association ("ELA") to host the First Annual AMN Symposium in Paris, France. Key experts from both within and external to the ALD community participated. As a result, several agents and drug combinations were identified, which will then be progressed into preclinical and clinical development. Future partnerships with biotech and pharma companies who currently have drugs in their pipelines that may show promise in AMN are also being actively pursued.
As you may recall, SALD cosponsored a clinical trial, titled "BEZA", which enrolled 12 men with AMN in The Netherlands. The Dutch investigators tested whether this drug had an effect on VLCFAs (Very Long Chain Fatty Acids). Although there were very promising results in the laboratory with animals, unfortunately similarly promising results were not achieved in the human study. While the drug proved to be safe and had a positive effect on other circulating lipids, it did not impact VLCFA's. Nevertheless, valuable information was collected as a result of this experiment that will inform future studies.
We look forward to seeing this study published so that others may benefit from the knowledge that has been gained. Often, even negative outcomes have utility both in identifying alternative paths forward and in preventing patients from wasting precious time and resources on therapies which we now know will provide no benefit.
Newborn Screening ("NBS")
SALD continues to work directly with and support others who are advancing the NBS initiative. A nomination was made to the Secretary's Advisory Committee to the Health Resources and Services Administration ("HRSA"), which is part of the U.S. Department of Health and Human Services. This will be reviewed at their next meeting in September.
In addition to driving the initiatives mentioned above, SALD continues to provide education, referral information and other forms of support to afflicted patients and their families.